Related gene-specific medical variations for Gene (Select 4091) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361175	NM_005585.5(SMAD6):c.1168_1169delinsCT (p.Gly390Leu)	SMAD6 (G390L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3235901	NM_005585.5(SMAD6):c.789del (p.Tyr264fs)	SMAD6 (Y264fs)	Deletion (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3065288	NM_005585.5(SMAD6):c.1318G>C (p.Asp440His)	SMAD6 (D440H)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis, nonsyndromic, susceptibility to	GUncertain significance
Select item 3063352	GRCh37/hg19 15q22.31(chr15:67034137-67116860)x1	SMAD6	Copy number loss	not specified	GUncertain significance
Select item 3062250	NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)	SMAD6 (I481fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 2441770	NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)	SMAD6 (K395*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2436118	NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)	SMAD6 (Y434H)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2436117	NM_005585.5(SMAD6):c.638dup (p.Arg214fs)	SMAD6 (R214fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1679650	NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro)	SMAD6 (L244P)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1341812	NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile)	SMAD6 (N262I)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 1325102	NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)	SMAD6 (K289*)	Single nucleotide variant (nonsense +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 1174586	NM_005585.5(SMAD6):c.165C>A (p.Cys55Ter)	SMAD6 (C55*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis +1 more	GPathogenic
Select item 1174585	NM_005585.5(SMAD6):c.1099dup (p.Cys367fs)	SMAD6 (C367fs)	Duplication (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174584	NM_005585.5(SMAD6):c.217G>T (p.Gly73Ter)	SMAD6 (G73*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174583	NM_005585.5(SMAD6):c.995G>T (p.Cys332Phe)	SMAD6 (C332F)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 1174582	NM_005585.5(SMAD6):c.1324G>T (p.Glu442Ter)	SMAD6 (E442*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174581	NM_005585.5(SMAD6):c.1132G>T (p.Glu378Ter)	SMAD6 (E378*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174580	NM_005585.5(SMAD6):c.1010G>A (p.Trp337Ter)	SMAD6 (W337*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174579	NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter)	SMAD6 (K429*)	Single nucleotide variant (nonsense +1 more)	Heart, malformation of +3 more	GPathogenic
Select item 1174578	NM_005585.5(SMAD6):c.1419del (p.Cys475fs)	SMAD6 (C475fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174577	NM_005585.5(SMAD6):c.1305dup (p.Ile436fs)	SMAD6 (I436fs)	Duplication (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174576	NM_005585.5(SMAD6):c.1227del (p.Ile410fs)	SMAD6 (I410fs)	Deletion (frameshift variant +1 more)	Polydactyly +1 more	GPathogenic
Select item 1174574	NM_005585.5(SMAD6):c.511G>A (p.Glu171Lys)	SMAD6 (E171K)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174572	NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)	SMAD6	Duplication (inframe_insertion +1 more)	Heart, malformation of +2 more	GUncertain significance
Select item 1174571	NM_005585.5(SMAD6):c.67del (p.Glu23fs)	SMAD6 (E23fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174570	NM_005585.5(SMAD6):c.325del (p.Glu109fs)	SMAD6 (E109fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174569	NM_005585.5(SMAD6):c.294del (p.Gly99fs)	SMAD6 (G99fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis +1 more	GPathogenic
Select item 1174568	NM_005585.5(SMAD6):c.283del (p.Glu95fs)	SMAD6 (E95fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174565	NM_005585.5(SMAD6):c.243del (p.Arg82fs)	SMAD6 (R82fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis +1 more	GPathogenic
Select item 1174563	NM_005585.5(SMAD6):c.24del (p.Leu9fs)	SMAD6 (L9fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174562	NM_005585.5(SMAD6):c.1309A>T (p.Lys437Ter)	SMAD6 (K437*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174561	NM_005585.5(SMAD6):c.1410G>C (p.Lys470Asn)	SMAD6 (K470N)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 1174557	NM_005585.5(SMAD6):c.136del (p.Ala46fs)	SMAD6 (A46fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174556	NM_005585.5(SMAD6):c.1416G>A (p.Trp472Ter)	SMAD6 (W472*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174555	NM_005585.5(SMAD6):c.590C>A (p.Ser197Tyr)	SMAD6 (S197Y)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 1174554	NM_005585.5(SMAD6):c.1012del (p.Glu338fs)	SMAD6 (E338fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174553	NM_005585.5(SMAD6):c.439_457dup (p.Ala153fs)	SMAD6 (A153fs)	Duplication (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174552	NM_005585.5(SMAD6):c.859G>T (p.Glu287Ter)	SMAD6 (E287*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174551	NM_005585.5(SMAD6):c.872del (p.Leu291fs)	SMAD6 (L291fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174550	NM_005585.5(SMAD6):c.38T>A (p.Leu13His)	SMAD6 (L13H)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 1174549	NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter)	SMAD6 (E338*)	Single nucleotide variant (nonsense +1 more)	Heart, malformation of +1 more	GPathogenic
Select item 1174548	NM_005585.5(SMAD6):c.352G>T (p.Glu118Ter)	SMAD6 (E118*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 1174547	NM_005585.5(SMAD6):c.3dup (p.Phe2fs)	SMAD6 (F2fs)	Duplication (frameshift variant +2 more)	Radioulnar synostosis	GPathogenic
Select item 1174546	NM_005585.5(SMAD6):c.1460G>T (p.Trp487Leu)	SMAD6 (W487L)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 1174545	NM_005585.5(SMAD6):c.957_958insGCAA (p.Ser320fs)	SMAD6 (S320fs)	Insertion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 690425	NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp)	SMAD6 (G154D)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 690424	NM_005585.5(SMAD6):c.589del (p.Ser197fs)	SMAD6 (S197fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 690423	NM_005585.5(SMAD6):c.442del (p.Ala148fs)	SMAD6 (A148fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690422	NM_005585.5(SMAD6):c.106dup (p.Asp36fs)	SMAD6 (D36fs)	Duplication (frameshift variant +1 more)	Radioulnar synostosis	GPathogenic
Select item 690420	NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter)	SMAD6 (E315*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 690419	NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter)	SMAD6 (W115*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GPathogenic
Select item 690418	NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu)	SMAD6 (S187L)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690417	NM_005585.5(SMAD6):c.452_458del (p.Glu151fs)	SMAD6 (E151fs)	Deletion (frameshift variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690416	NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs)	SMAD6 (G88fs)	Indel (frameshift variant +1 more)	Radioulnar synostosis	GLikely pathogenic
Select item 690414	NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter)	SMAD6 (Q447*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690413	NM_005585.5(SMAD6):c.1016A>C (p.His339Pro)	SMAD6 (H339P)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690411	NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn)	SMAD6 (S267N)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690409	NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter)	SMAD6 (Y300*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690408	NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg)	SMAD6 (Q370R)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 690407	NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg)	SMAD6 (G217R)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance

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Links from Gene

Items: 60